Canonical Allele Identifier: CA575783400
Gene: BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1554611951
gnomAD v2: 7-73097886-C-A
gnomAD v3: 7-73683556-C-A
gnomAD v4: 7-73683556-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683556C>A , CM000669.2:g.73683556C>A GRCh38
NC_000007.13:g.73097886C>A , CM000669.1:g.73097886C>A GRCh37
NC_000007.12:g.72735822C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000464615.1:n.359+173C>A